Incidental Mutation 'R6367:Agk'
ID512742
Institutional Source Beutler Lab
Gene Symbol Agk
Ensembl Gene ENSMUSG00000029916
Gene Nameacylglycerol kinase
SynonymsMuLK, 2610037M15Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.601) question?
Stock #R6367 (G1)
Quality Score225.009
Status Validated
Chromosome6
Chromosomal Location40325172-40396762 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 40386941 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 285 (F285S)
Ref Sequence ENSEMBL: ENSMUSP00000031977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031977]
Predicted Effect probably benign
Transcript: ENSMUST00000031977
AA Change: F285S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000031977
Gene: ENSMUSG00000029916
AA Change: F285S

DomainStartEndE-ValueType
DAGKc 62 193 1.9e-6 SMART
low complexity region 257 272 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201751
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency 98% (44/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10. [provided by RefSeq, Feb 2012]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,216,248 N54D possibly damaging Het
Abca4 A C 3: 122,103,580 Q636P probably damaging Het
Als2 C A 1: 59,199,140 V678L probably benign Het
Arhgap17 T C 7: 123,308,363 *231W probably null Het
Atp11b A G 3: 35,784,537 T89A probably damaging Het
Axl A T 7: 25,787,433 C50S probably damaging Het
Cachd1 A G 4: 101,002,970 D1246G probably damaging Het
Dip2b A T 15: 100,115,914 Q57L possibly damaging Het
Dnah14 A G 1: 181,755,386 probably null Het
Enpep G T 3: 129,332,081 T134N possibly damaging Het
Ets1 C T 9: 32,733,960 Q168* probably null Het
Fanci T C 7: 79,426,195 C529R probably damaging Het
Fbxw28 A G 9: 109,339,531 probably null Het
Gucy2c C T 6: 136,709,778 E796K probably damaging Het
Igsf9b G A 9: 27,309,525 W62* probably null Het
Kcng1 C A 2: 168,262,652 V425L probably damaging Het
Kndc1 T C 7: 139,913,506 S463P probably damaging Het
Lrba G C 3: 86,368,562 A1746P probably benign Het
Mgat4c G T 10: 102,385,154 probably null Het
Nckap1l G A 15: 103,475,722 M582I probably benign Het
Oacyl G T 18: 65,725,444 R207L probably damaging Het
Olfr1148 T C 2: 87,833,593 C185R probably damaging Het
Olfr1263 A G 2: 90,015,016 I29V probably benign Het
Olfr164 C T 16: 19,286,072 V224M probably damaging Het
Olfr561 C A 7: 102,774,829 Q102K possibly damaging Het
Pacsin2 C T 15: 83,381,832 A55T probably benign Het
Plekhm2 T C 4: 141,639,705 D208G probably damaging Het
Ptpru T C 4: 131,774,352 D1181G probably benign Het
Safb A G 17: 56,593,845 probably benign Het
Scp2 T A 4: 108,112,250 Y35F probably damaging Het
Secisbp2 A G 13: 51,682,141 Y757C probably damaging Het
Sp110 C T 1: 85,594,292 V97M probably benign Het
Ssx2ip A G 3: 146,419,166 Y82C probably benign Het
Svopl A T 6: 38,019,679 W288R possibly damaging Het
Tdg T C 10: 82,647,988 Y345H possibly damaging Het
Tmem109 A G 19: 10,874,363 F53S possibly damaging Het
Tpsab1 G T 17: 25,343,474 T293N probably damaging Het
Trpm8 A G 1: 88,359,683 D796G probably damaging Het
Tuba1c T C 15: 99,037,453 I265T probably damaging Het
Unc80 T C 1: 66,672,766 V2749A probably benign Het
Utrn A G 10: 12,747,975 L173P probably damaging Het
Vmn2r111 T C 17: 22,559,051 N549S possibly damaging Het
Wbp2 G T 11: 116,083,915 T31N probably benign Het
Wdr1 G T 5: 38,545,846 A129D possibly damaging Het
Yod1 G A 1: 130,717,538 G19S probably damaging Het
Other mutations in Agk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02019:Agk APN 6 40376226 missense probably damaging 0.98
IGL02254:Agk APN 6 40381246 missense probably damaging 1.00
IGL02309:Agk APN 6 40376276 missense possibly damaging 0.59
IGL03371:Agk APN 6 40394642 missense probably benign
R1145:Agk UTSW 6 40352438 splice site probably benign
R1470:Agk UTSW 6 40386817 missense probably damaging 1.00
R1470:Agk UTSW 6 40386817 missense probably damaging 1.00
R1806:Agk UTSW 6 40387495 missense probably damaging 0.99
R2011:Agk UTSW 6 40376234 missense probably benign 0.00
R3552:Agk UTSW 6 40394681 missense probably benign
R4853:Agk UTSW 6 40383819 critical splice donor site probably null
R6591:Agk UTSW 6 40392690 missense probably benign 0.29
R6691:Agk UTSW 6 40392690 missense probably benign 0.29
R6753:Agk UTSW 6 40368570 splice site probably null
R7299:Agk UTSW 6 40329517 missense possibly damaging 0.93
R7301:Agk UTSW 6 40329517 missense possibly damaging 0.93
R7757:Agk UTSW 6 40376278 missense possibly damaging 0.95
R8063:Agk UTSW 6 40329556 missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GAATTCTGACCTTTGCAGAGC -3'
(R):5'- CTAGCACAGATGTCAGTGACAAAG -3'

Sequencing Primer
(F):5'- AGAGCAAAGCCCCCTGTGTTAG -3'
(R):5'- CACAGATGTCAGTGACAAAGAGGAC -3'
Posted On2018-04-27